Snips about SNPs ~ MTHFR

Snips about SNPs

1. What is it~MTHFR?

MTHFR represents a gene called methylenetetrahydrofolate reductase.  For more on MTHFR you can see this post we wrote a while back.

2. What SNPs have been studied? Which ones are most common or of most health interest?

3 of the most common studied SNPs are:

  • rs1801133  (also referred to as the C677T)  Wild Type/Normal: 677CC, homozygous: 677TT, heterozygous 677CT
  • rs1801131 (also referred to as the A1298C) Wild Type/Normal: 1298AA, homozygous: 1298CC , heterozygous: 1298AC
  • rs2274976

Ethnic Ditribution of MTHFR SNP’s  –

Findings:(for MTHFR C677T)

The distribution of the allele showed marked ethnic and

geographical variation The homozygous TT genotype

was particularly common in northern China (20%),

southern Italy (26%), and Mexico (32%). There was also

some evidence for geographical gradients in Europe

(north to south increase) and China (north to south

decrease). The TT genotype frequency was low among

newborns of African ancestry, intermediate among

newborns of European origin, and high among

newborns of American Hispanic ancestry.

3. What are some medical conditions that have been linked to these SNP’s?

Only selected publications are highlighted above, Click HERE to browse ALL the PubMed journal references for MTHFR polymorphisms (nearly 5000 total in 3/13)

4. What are the Basics?

MTHFR Heterozygous versus Homozygous video

5. What are the Environmental Influences may impact this SNP? (Vaccines, medications, foods, vitamins, toxins)

The Emerging Field of Vaccine Adverse Event Immunogenetics

In another study 131 healthy volunteers from 2 independent smallpox vaccine studies were genotyped across 386 genes and assessed for local and systemic AEs.11 The authors reported that genetic polymorphisms in genes expressing an enzyme previously associated with adverse reactions to a variety of pharmacologic agents (ie, the methylenetetrahydrofolate reductase, MTHFR, gene) and an immunologic transcription factor (ie, the interferon regulatory factor-1, IRF1, gene) were associated with local and systemic AEs (an oral temperature >38.3°C, generalized skin eruptions, or enlarged or tender regional lymph nodes) after smallpox vaccination.

The presence of a nonsynonymous SNP (rs1801133) in the methylenetetrahydrofolate reductase (MTHFR) gene was associated with the risk of Adverse Events in both trials (odds ratio [OR], 2.3 [95% confidence interval {CI}1.1–5.2] [P = .04] and OR, 4.1 [95% CI, 1.4–11.4] [P<.01]). Two SNPs in the interferon regulatory factor-1 (IRF1) gene were associated with the risk of AE in both sample sets (OR, 3.2 [95% CI, 1.1–9.8] [P = .03] and OR, 3.0 [95% CI, 1.1–8.3] [P = .03]). Genetic polymorphisms in genes expressing an enzyme previously associated with adverse reactions to a variety of pharmacologic agents (MTHFR) and an immunological transcription factor (IRF1) were associated with AEs after smallpox vaccination in 2 independent study samples.

Genetic risk factors for drug-induced liver injury in rheumatoid arthritis patients using low-dose methotrexate.

Low-dose methotrexate (MTX) is part of the mainstay of rheumatoid arthritis treatment. Hepatotoxicity is among the most feared side effects of low-dose MTX and is associated with increased morbidity. These candidate genetic markers include polymorphisms in the gene encoding the enzyme MTHFR.

6. What impact does this have on pregnancy and children and Autism risk?

The state of California is screening for MTHFR (as a grouping of disorders called re-methylation defects) on Newborn Screening.  More info HERE (CA info) and HERE (NBS method info).

Listen to this 4 part series by Dr. Neil Rawlins and OB/GYN in Washington State.

Part 1

Part 2

Part 3

Part 4

7. Where Can I learn More?

Spectracell Webinar about MTHFR polymorphisms– Dr. Bridget Briggs

8. A weekly Blog Talk Radio Show about MTHFR and methylation (as well as many other SNPs) archives are here-

9.Is there a webinar aimed at Practitioners, A good one to share with my Doctor?

10. Where can I find out more, get support or talk to others who may have this SNP?

A few blogs talking about MTHFR: HEREHERE, HERE, HERE, HERE and HERE.

Editor’s note-I found this great explanation about SNPs and Methylation here!


About Empowered Advocacy Pediatric Patient Advocate
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6 Responses to Snips about SNPs ~ MTHFR

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